Canonical Allele Identifier: CA930899645
Gene: PAPSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1853671206
gnomAD v3: 10-87727305-TC-T
gnomAD v4: 10-87727305-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727309del , CM000672.2:g.87727309del GRCh38
NC_000010.10:g.89487066del , CM000672.1:g.89487066del GRCh37
NC_000010.9:g.89477046del NCBI36
NG_012150.1:g.72591del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.906del MANE Select ENSP00000406157.1:p.Ile303LeufsTer28
ENST00000361175.8:c.891del ENSP00000354436.4:p.Ile298LeufsTer28
ENST00000456849.1:c.906del ENSP00000406157.1:p.Ile303LeufsTer28
NM_001015880.1:c.906del NP_001015880.1:p.Ile303LeufsTer28
NM_004670.3:c.891del NP_004661.2:p.Ile298LeufsTer28
NM_001015880.2:c.906del MANE Select NP_001015880.1:p.Ile303LeufsTer28
NM_004670.4:c.891del NP_004661.2:p.Ile298LeufsTer28
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